Relevance to Autism

Rare inherited loss-of-function and damaging missense variants in the KRT26 gene were identified in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in a cohort of Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified KRT26 as an ASD candidate gene with a PTADA of 0.005182.

Molecular Function

The protein encoded by this gene is a member of the keratin superfamily.

External Links

References